ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.70_89dup (p.Gly31fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002814358 SCV003035423 likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2022-06-21 criteria provided, single submitter clinical testing

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